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A point mutation (G to A) was introduced in codon 851 of exon 4, predicted to result in a R284Q alteration in the encoded protein. This mouse mutation corresponds to the single amino acid substitution (c.848G>A or R283Q) identified in infertile globozoospermic patients. RT-PCR analysis indicated that the point mutation caused no splicing abnormality. (J:258202)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
